ReviewBirth defects research. Part C, Embryo today : reviews2015
Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.
Review in Birth defects research. Part C, Embryo today : reviews, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
47 citing papers in PubMed, 76 citations in OpenAlex.
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- Patient-specific finite element analysis of orbital biomechanical responses to malpositioned self-inflating hydrogel implants in congenital microphthalmia.Frontiers in medicine · 2026Article
- Characterization of a spontaneous microphthalmia-like mutant mouse with isolated ocular defects.PloS one · 2026Article
- Case Report: Pars plana filtration in the treatment of nanophthalmos patients with secondary angle closure glaucoma.Frontiers in medicine · 2026Article
- Examination of an iPSC model of human eye development reveals progressive emergence of critical embryonic cell types.Scientific reports · 2025Article
- Genetic and environmental factors contributing to anophthalmia and microphthalmia: Current understanding and future directions.World journal of clinical pediatrics · 2025Review
- Eph-ephrin signaling affects lens growth and shape, nucleus size, and gradient refractive index in adult mice.Frontiers in ophthalmology · 2025Article
- DNA methyltransferase 1 regulates epithelial cell functions in corneal and eyelid development.Molecular vision · 2025Article
- Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.Nature communications · 2024Article
- Construction and Identification of a Novel Mice Model of Microphthalmia.Translational vision science & technology · 2024Article
- Association of variants in GJA8 with familial acorea-microphthalmia-cataract syndrome.European journal of human genetics : EJHG · 2024Article
- Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome.Investigative ophthalmology & visual science · 2023Review
- Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives.Clinical ophthalmology (Auckland, N.Z.) · 2023Review
- Review
- Cell fate decisions, transcription factors and signaling during early retinal development.Progress in retinal and eye research · 2022Review
- Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia.Clinical case reports · 2022Article
- NovelMolecular vision · 2022Article
- Efficient embryoid-based method to improve generation of optic vesicles from human induced pluripotent stem cells.F1000Research · 2022Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
The human eye is a complex organ whose development requires extraordinary coordination of developmental processes. The conservation of ocular developmental steps in vertebrates suggests possible common genetic mechanisms. Genetic diseases involving the eye represent a leading cause of blindness in children and adults. During the last decades, there has been an exponential increase in genetic studies of ocular disorders. In this review, we summarize current success in identification of genes responsible for microphthalmia, anophthalmia, and coloboma (MAC) phenotypes, which are associated with early defects in embryonic eye development. Studies in animal models for the orthologous genes identified overlapping phenotypes for most factors, confirming the conservation of their function in vertebrate development. These animal models allow for further investigation of the mechanisms of MAC, integration of various identified genes into common developmental pathways and finally, provide an avenue for the development and testing of therapeutic interventions.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.